Variant report

Variant	rs72995890
Chromosome Location	chr4:175752813-175752814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:175752781-175752831	AG10803	skin:	n/a
2	chr4:175752781-175752831	BJ	skin:	n/a
3	chr4:175752781-175752831	SKMC	muscle:	n/a
4	chr4:175752781-175752831	AoSMC	blood vessel:	n/a
5	chr4:175752781-175752831	HEEpiC	esophagus:	n/a
6	chr4:175752781-175752831	SAEC	small airway:	n/a
7	chr4:175752781-175752831	IMR90	lung:	fetal
8	chr4:175752781-175752831	H1-hESC	embryonic stem cell:	embryo
9	chr4:175752781-175752831	NB4	blood:	n/a
10	chr4:175752781-175752831	MCF10A-Er-Src	breast:	n/a
11	chr4:175752781-175752831	MCF-7	breast:	n/a
12	chr4:175752781-175752831	U87	brain:	n/a
13	chr4:175752781-175752831	BE2_C	brain:	n/a
14	chr4:175752781-175752831	HRCEpiC	kidney:	n/a
15	chr4:175752781-175752831	HRPEpiC	eye:	n/a
16	chr4:175752781-175752831	HRE	kidney:	n/a
17	chr4:175752781-175752831	PrEC	prostate:	n/a
18	chr4:175752781-175752831	RPTEC	kidney:	n/a
19	chr4:175752781-175752831	NHBE	bronchial:	n/a
20	chr4:175752781-175752831	SK-N-SH	brain:	n/a
21	chr4:175752781-175752831	GM12878	blood:	n/a
22	chr4:175752781-175752831	AG09319	gingival:	n/a
23	chr4:175752781-175752831	HCF	heart:	n/a
24	chr4:175752781-175752831	SK-N-MC	brain:	n/a
25	chr4:175752781-175752831	Caco-2	colon:	n/a
26	chr4:175752781-175752831	HUVEC	blood vessel:	n/a
27	chr4:175752781-175752831	NT2-D1	testis:	n/a
28	chr4:175752781-175752831	GM12891	blood:	n/a
29	chr4:175752781-175752831	PANC-1	pancreas:	n/a
30	chr4:175752781-175752831	SK-N-SH_RA	brain:	n/a
31	chr4:175752781-175752831	HepG2	liver:	n/a
32	chr4:175752781-175752831	T-47D	breast:	n/a
33	chr4:175752781-175752831	GM12892	blood:	n/a
34	chr4:175752781-175752831	HCM	heart:	n/a
35	chr4:175752781-175752831	NHDF-neo	bronchial:	n/a
36	chr4:175752781-175752831	LNCaP	prostate:	n/a
37	chr4:175752781-175752831	Jurkat	blood:	n/a
38	chr4:175752781-175752831	HCT-116	colon:	n/a
39	chr4:175752781-175752831	HMEC	breast:	n/a
40	chr4:175752781-175752831	AG04449	skin:	fetal
41	chr4:175752781-175752831	ECC-1	luminal epithelium:	n/a
42	chr4:175752781-175752831	GM19239	blood:	n/a
43	chr4:175752781-175752831	HNPCEpiC	eye:	n/a
44	chr4:175752781-175752831	A549	lung:	n/a
45	chr4:175752781-175752831	K562	blood:	n/a
46	chr4:175752781-175752831	Hela-S3	cervix:	n/a
47	chr4:175752781-175752831	HAEpiC	amniotic membrane:	n/a
48	chr4:175752781-175752831	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:175752781-175752831	CMK	blood:	n/a
50	chr4:175752781-175752831	HEK293	kidney:	embryo

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175752218..175753789-chr4:175757146..175759391,2	K562	blood:

No data

Variant related genes	Relation type
GLRA3	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1485947	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995893	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867676	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1018390	chr4:175475505-175969742	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1034301	chr4:175656538-176055348	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv537364	chr4:175656538-176055348	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1030235	chr4:175663839-175969742	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv537365	chr4:175663839-175969742	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830156	chr4:175725040-175916435	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175751200-175757600	Weak transcription	Placenta	Placenta

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